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Gene: UQCRH |
Gene summary for UQCRH |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | UQCRH | Gene ID | 7388 |
| Gene name | ubiquinol-cytochrome c reductase hinge protein | |
| Gene Alias | QCR6 | |
| Cytomap | 1p33 | |
| Gene Type | protein-coding | GO ID | GO:0006091 | UniProtAcc | Q567R0 |
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Malignant transformation analysis |
| Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
| Malignant transformation involving gene list. |
| Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
| 7388 | UQCRH | GSM4909281 | Human | Breast | IDC | 8.86e-44 | 5.29e-01 | 0.21 |
| 7388 | UQCRH | GSM4909282 | Human | Breast | IDC | 2.83e-97 | 7.44e-01 | -0.0288 |
| 7388 | UQCRH | GSM4909285 | Human | Breast | IDC | 7.74e-136 | 8.47e-01 | 0.21 |
| 7388 | UQCRH | GSM4909286 | Human | Breast | IDC | 4.75e-22 | 4.22e-01 | 0.1081 |
| 7388 | UQCRH | GSM4909287 | Human | Breast | IDC | 2.22e-77 | 5.73e-01 | 0.2057 |
| 7388 | UQCRH | GSM4909288 | Human | Breast | IDC | 6.85e-21 | 4.08e-01 | 0.0988 |
| 7388 | UQCRH | GSM4909290 | Human | Breast | IDC | 6.65e-24 | 4.07e-01 | 0.2096 |
| 7388 | UQCRH | GSM4909293 | Human | Breast | IDC | 1.48e-10 | 3.72e-01 | 0.1581 |
| 7388 | UQCRH | GSM4909294 | Human | Breast | IDC | 1.72e-24 | 3.11e-01 | 0.2022 |
| 7388 | UQCRH | GSM4909296 | Human | Breast | IDC | 1.11e-18 | 2.13e-01 | 0.1524 |
| 7388 | UQCRH | GSM4909297 | Human | Breast | IDC | 1.15e-23 | -3.13e-01 | 0.1517 |
| 7388 | UQCRH | GSM4909301 | Human | Breast | IDC | 4.87e-11 | 2.49e-01 | 0.1577 |
| 7388 | UQCRH | GSM4909311 | Human | Breast | IDC | 7.30e-56 | -1.54e-01 | 0.1534 |
| 7388 | UQCRH | GSM4909312 | Human | Breast | IDC | 3.24e-10 | 6.34e-02 | 0.1552 |
| 7388 | UQCRH | GSM4909313 | Human | Breast | IDC | 9.83e-03 | -1.36e-01 | 0.0391 |
| 7388 | UQCRH | GSM4909315 | Human | Breast | IDC | 2.86e-49 | 5.26e-01 | 0.21 |
| 7388 | UQCRH | GSM4909316 | Human | Breast | IDC | 7.67e-28 | 4.67e-01 | 0.21 |
| 7388 | UQCRH | GSM4909318 | Human | Breast | IDC | 2.41e-04 | 1.36e-01 | 0.2031 |
| 7388 | UQCRH | GSM4909319 | Human | Breast | IDC | 5.77e-71 | -5.73e-01 | 0.1563 |
| 7388 | UQCRH | GSM4909320 | Human | Breast | IDC | 1.20e-05 | -3.05e-01 | 0.1575 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Breast |  | IDC: Invasive ductal carcinoma |
| DCIS: Ductal carcinoma in situ | ||
| Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers | ||
| Cervix |  | CC: Cervix cancer |
| HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions | ||
| N_HPV: HPV-infected normal cervix | ||
| Colorectum (GSE201348) |  | FAP: Familial adenomatous polyposis |
| CRC: Colorectal cancer | ||
| Colorectum (HTA11) |  | AD: Adenomas |
| SER: Sessile serrated lesions | ||
| MSI-H: Microsatellite-high colorectal cancer | ||
| MSS: Microsatellite stable colorectal cancer | ||
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid Cancer | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Prostate |  | BPH: Benign Prostatic Hyperplasia |
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ | ||
| Thyroid |  | ATC: Anaplastic thyroid cancer |
| HT: Hashimoto's thyroiditis | ||
| PTC: Papillary thyroid cancer |
| ∗log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage. |
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Malignant transformation related pathway analysis |
| Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
| Figure of enriched GO biological processes. |
| Tissue | Disease Stage | Enriched GO biological Processes |
| Colorectum | AD |  |
| Colorectum | SER |  |
| Colorectum | MSS |  |
| Colorectum | MSI-H |  |
| Colorectum | FAP |  |
| ∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:004603420 | Oral cavity | OSCC | ATP metabolic process | 166/7305 | 277/18723 | 1.16e-12 | 5.12e-11 | 166 |
| GO:000611919 | Oral cavity | OSCC | oxidative phosphorylation | 96/7305 | 141/18723 | 2.33e-12 | 9.75e-11 | 96 |
| GO:000612217 | Oral cavity | OSCC | mitochondrial electron transport, ubiquinol to cytochrome c | 10/7305 | 11/18723 | 5.78e-04 | 3.30e-03 | 10 |
| GO:002290019 | Oral cavity | LP | electron transport chain | 108/4623 | 175/18723 | 2.21e-25 | 9.90e-23 | 108 |
| GO:000906019 | Oral cavity | LP | aerobic respiration | 111/4623 | 189/18723 | 1.68e-23 | 5.85e-21 | 111 |
| GO:004277319 | Oral cavity | LP | ATP synthesis coupled electron transport | 69/4623 | 95/18723 | 9.69e-23 | 3.04e-20 | 69 |
| GO:004277519 | Oral cavity | LP | mitochondrial ATP synthesis coupled electron transport | 69/4623 | 95/18723 | 9.69e-23 | 3.04e-20 | 69 |
| GO:004533319 | Oral cavity | LP | cellular respiration | 124/4623 | 230/18723 | 1.35e-21 | 3.38e-19 | 124 |
| GO:000609119 | Oral cavity | LP | generation of precursor metabolites and energy | 214/4623 | 490/18723 | 1.12e-20 | 2.60e-18 | 214 |
| GO:002290419 | Oral cavity | LP | respiratory electron transport chain | 75/4623 | 114/18723 | 1.92e-20 | 4.14e-18 | 75 |
| GO:001964619 | Oral cavity | LP | aerobic electron transport chain | 62/4623 | 87/18723 | 7.13e-20 | 1.49e-17 | 62 |
| GO:0006119110 | Oral cavity | LP | oxidative phosphorylation | 81/4623 | 141/18723 | 9.70e-17 | 1.48e-14 | 81 |
| GO:001598019 | Oral cavity | LP | energy derivation by oxidation of organic compounds | 145/4623 | 318/18723 | 2.44e-16 | 3.64e-14 | 145 |
| GO:0046034110 | Oral cavity | LP | ATP metabolic process | 128/4623 | 277/18723 | 3.95e-15 | 5.38e-13 | 128 |
| GO:000612218 | Oral cavity | LP | mitochondrial electron transport, ubiquinol to cytochrome c | 10/4623 | 11/18723 | 7.14e-06 | 1.37e-04 | 10 |
| GO:004603426 | Oral cavity | EOLP | ATP metabolic process | 68/2218 | 277/18723 | 2.72e-09 | 1.71e-07 | 68 |
| GO:001964625 | Oral cavity | EOLP | aerobic electron transport chain | 26/2218 | 87/18723 | 5.15e-06 | 1.04e-04 | 26 |
| GO:004277325 | Oral cavity | EOLP | ATP synthesis coupled electron transport | 27/2218 | 95/18723 | 9.68e-06 | 1.75e-04 | 27 |
| GO:004277525 | Oral cavity | EOLP | mitochondrial ATP synthesis coupled electron transport | 27/2218 | 95/18723 | 9.68e-06 | 1.75e-04 | 27 |
| GO:000611925 | Oral cavity | EOLP | oxidative phosphorylation | 33/2218 | 141/18723 | 8.63e-05 | 1.02e-03 | 33 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa0501218 | Breast | Precancer | Parkinson disease | 99/684 | 266/8465 | 3.58e-42 | 5.65e-40 | 4.33e-40 | 99 |
| hsa0502016 | Breast | Precancer | Prion disease | 95/684 | 273/8465 | 1.39e-37 | 1.46e-35 | 1.12e-35 | 95 |
| hsa0501616 | Breast | Precancer | Huntington disease | 98/684 | 306/8465 | 2.85e-35 | 2.25e-33 | 1.72e-33 | 98 |
| hsa0019016 | Breast | Precancer | Oxidative phosphorylation | 59/684 | 134/8465 | 6.15e-30 | 3.24e-28 | 2.48e-28 | 59 |
| hsa0501016 | Breast | Precancer | Alzheimer disease | 103/684 | 384/8465 | 1.03e-29 | 4.66e-28 | 3.57e-28 | 103 |
| hsa0501416 | Breast | Precancer | Amyotrophic lateral sclerosis | 98/684 | 364/8465 | 2.13e-28 | 8.41e-27 | 6.44e-27 | 98 |
| hsa0502216 | Breast | Precancer | Pathways of neurodegeneration - multiple diseases | 112/684 | 476/8465 | 6.96e-27 | 2.44e-25 | 1.87e-25 | 112 |
| hsa0520818 | Breast | Precancer | Chemical carcinogenesis - reactive oxygen species | 68/684 | 223/8465 | 3.61e-23 | 1.14e-21 | 8.73e-22 | 68 |
| hsa0471418 | Breast | Precancer | Thermogenesis | 68/684 | 232/8465 | 4.40e-22 | 1.26e-20 | 9.69e-21 | 68 |
| hsa0541518 | Breast | Precancer | Diabetic cardiomyopathy | 63/684 | 203/8465 | 5.63e-22 | 1.48e-20 | 1.14e-20 | 63 |
| hsa0493216 | Breast | Precancer | Non-alcoholic fatty liver disease | 48/684 | 155/8465 | 6.16e-17 | 1.50e-15 | 1.15e-15 | 48 |
| hsa0426016 | Breast | Precancer | Cardiac muscle contraction | 22/684 | 87/8465 | 9.72e-07 | 1.62e-05 | 1.24e-05 | 22 |
| hsa0501219 | Breast | Precancer | Parkinson disease | 99/684 | 266/8465 | 3.58e-42 | 5.65e-40 | 4.33e-40 | 99 |
| hsa0502017 | Breast | Precancer | Prion disease | 95/684 | 273/8465 | 1.39e-37 | 1.46e-35 | 1.12e-35 | 95 |
| hsa0501617 | Breast | Precancer | Huntington disease | 98/684 | 306/8465 | 2.85e-35 | 2.25e-33 | 1.72e-33 | 98 |
| hsa0019017 | Breast | Precancer | Oxidative phosphorylation | 59/684 | 134/8465 | 6.15e-30 | 3.24e-28 | 2.48e-28 | 59 |
| hsa0501017 | Breast | Precancer | Alzheimer disease | 103/684 | 384/8465 | 1.03e-29 | 4.66e-28 | 3.57e-28 | 103 |
| hsa0501417 | Breast | Precancer | Amyotrophic lateral sclerosis | 98/684 | 364/8465 | 2.13e-28 | 8.41e-27 | 6.44e-27 | 98 |
| hsa0502217 | Breast | Precancer | Pathways of neurodegeneration - multiple diseases | 112/684 | 476/8465 | 6.96e-27 | 2.44e-25 | 1.87e-25 | 112 |
| hsa0520819 | Breast | Precancer | Chemical carcinogenesis - reactive oxygen species | 68/684 | 223/8465 | 3.61e-23 | 1.14e-21 | 8.73e-22 | 68 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 |
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Cell-cell communication analysis |
| Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
| Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
| Page: 1 |
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Single-cell gene regulatory network inference analysis |
| Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
| TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
| ∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
| Page: 1 |
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Somatic mutation of malignant transformation related genes |
| Annotation of somatic variants for genes involved in malignant transformation |
| Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
| UQCRH | SNV | Missense_Mutation | novel | c.266A>G | p.Asn89Ser | p.N89S | P07919 | protein_coding | tolerated(0.81) | benign(0.001) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| UQCRH | SNV | Missense_Mutation | novel | c.49N>A | p.Glu17Lys | p.E17K | P07919 | protein_coding | tolerated(1) | benign(0) | TCGA-C5-A8XK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
| UQCRH | SNV | Missense_Mutation | rs771218841 | c.203C>T | p.Thr68Met | p.T68M | P07919 | protein_coding | tolerated(0.13) | probably_damaging(0.999) | TCGA-AA-3994-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | capecitabine | CR |
| UQCRH | SNV | Missense_Mutation | rs181971906 | c.230N>T | p.Ala77Val | p.A77V | P07919 | protein_coding | deleterious(0.01) | probably_damaging(0.991) | TCGA-EI-6917-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5fluorouracil+oxaciplatina+l-folinian | SD |
| UQCRH | SNV | Missense_Mutation | c.72G>T | p.Glu24Asp | p.E24D | P07919 | protein_coding | tolerated(0.09) | benign(0.058) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| UQCRH | SNV | Missense_Mutation | novel | c.205N>A | p.Glu69Lys | p.E69K | P07919 | protein_coding | deleterious(0) | probably_damaging(0.969) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
| UQCRH | SNV | Missense_Mutation | rs777050301 | c.145C>T | p.Arg49Trp | p.R49W | P07919 | protein_coding | deleterious(0.03) | benign(0.04) | TCGA-FI-A2D0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| UQCRH | SNV | Missense_Mutation | novel | c.28N>A | p.Leu10Ile | p.L10I | P07919 | protein_coding | tolerated(0.28) | benign(0.003) | TCGA-49-AARO-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
| UQCRH | SNV | Missense_Mutation | rs762474674 | c.146G>A | p.Arg49Gln | p.R49Q | P07919 | protein_coding | tolerated(0.11) | benign(0.042) | TCGA-55-A4DG-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
| Identification of chemicals and drugs interact with genes involved in malignant transfromation |
| (DGIdb 4.0) |
| Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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